ATP8B1

This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq]

ATPase, class I, type 8B, member 1

Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:25315773, PubMed:17948906).
May participate in the establishment of the canalicular membrane integrity by ensuring asymmetric distribution of phospholipids in the canicular membrane (By similarity).
Thus may have a role in the regulation of bile acids transport into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both and protect hepatocytes from bile salts (By similarity).
Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity (PubMed:20512993).
Participates in correct apical membrane localization of CDC42, CFTR and SLC10A2 (PubMed:25239307, PubMed:27301931).
Enables CDC42 clustering at the apical membrane during enterocyte polarization through the interaction between CDC42 polybasic region and negatively charged membrane lipids provided by ATP8B1 (By similarity).
Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine (PubMed:20510206).
Required for the preservation of cochlear hair cells in the inner ear (By similarity).
May act as cardiolipin transporter during inflammatory injury (By similarity).

Apical protein localization Source: UniProtKB
Bile acid and bile salt transport Source: UniProtKB
Bile acid metabolic process Source: Ensembl
Drug transmembrane transport Source: UniProtKB
Golgi organization Source: GO_Central
Inner ear receptor cell development Source: Ensembl
Ion transmembrane transport Source: Reactome
Negative regulation of transcription, DNA-templated Source: UniProtKB
Phospholipid translocation Source: UniProtKB
Regulation of chloride transport Source: UniProtKB
Regulation of microvillus assembly Source: UniProtKB
Regulation of plasma membrane organization Source: Ensembl
Sensory perception of sound Source: UniProtKB-KW
Vestibulocochlear nerve formation Source: Ensembl

Golgi apparatus; Endoplasmic reticulum; Cell membrane; Apical cell membrane; Stereocilium. Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B (PubMed:20947505). Localizes to apical membranes in epithelial cells (PubMed:20512993).

Cholestasis, progressive familial intrahepatic, 1 (PFIC1): A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Cholestasis, benign recurrent intrahepatic, 1 (BRIC1): A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.
Cholestasis of pregnancy, intrahepatic 1 (ICP1): A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery.

Cytoplasmic: 1-108 aa
Helical: 109-130 aa
Exoplasmic loop: 131-136 aa
Helical: 137-156 aa
Cytoplasmic: 157-340 aa
Helical: 341-362 aa
Exoplasmic loop: 363-389 aa
Helical: 390-411 aa
Cytoplasmic: 412-949 aa
Helical: 950-970 aa
Exoplasmic loop: 971-982 aa
Helical: 983-1002 aa
Cytoplasmic: 1003-1032 aa
Helical: 1033-1054 aa
Exoplasmic loop: 1055-1068 aa
Helical: 1069-1091 aa
Cytoplasmic: 1092-1097 aa
Helical: 1098-1118 aa
Exoplasmic loop: 1119-1138 aa
Helical: 1139-1163 aa
Cytoplasmic: 1164-1251 aa